ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113344
Gene: GJB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Leu90Pro
CA172219
NM_004004.6:c.269T>C